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Gene: Mbtps1 MGI:1927235

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
membrane-bound transcription factor peptidase, site 1
Synonyms:
SKI-1,  S1P,  subtilisin/kexin isozyme-1,  0610038M03Rik,  site-1 protease

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IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Mbtps1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mbtps1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
OMIM:618392

The table below shows human diseases predicted to be associated to Mbtps1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, R... OMIM:607624
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema... OMIM:300635
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Recurrent bronchopulmonary infections, Hypopigmentation of the skin, Decreased circulating total IgM OMIM:610798
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent urinary tract infections, Chronic lymphocytic meningitis, Villous atro... OMIM:209920
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism ORPHA:90023
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased circulating IgG level, Inflammation of the large intes... ORPHA:98813
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Recurrent upper respiratory t... OMIM:613101
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Neuroectodermal Melanolysosomal Disease
Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Premat... ORPHA:33445
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Immunodeficiency 37
Decreased circulating antibody level, Colitis, Infectious encephalitis, Recurrent infections OMIM:616098
Immunodeficiency 14B, Autosomal Recessive
Candida esophagitis, Reduced natural killer cell activity, Recurrent pneumonia, Chronic diarrhea,... OMIM:619281
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL ... OMIM:246700
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Mucoid diarrhea, Increased circulating IgE level, Inflammation ... OMIM:615767
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... OMIM:308220
Epidermolysis Bullosa Acquisita
Abdominal pain, Abnormal hair morphology, Inflammation of the large intestine, Nail dystrophy, Hy... ORPHA:46487
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, ... OMIM:617638
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... ORPHA:89838
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Elevated circulating C-reactive protein concentration, Bloody diarrhea OMIM:619398
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreas... OMIM:618394
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Griscelli Syndrome Type 1
Partial albinism, Hyperlipidemia, White hair, Premature graying of hair, Iris hypopigmentation ORPHA:79476
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Sepsis, Uveitis, Inflammation of the large intestine, Coliti... OMIM:614700
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, A... ORPHA:90363
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Constipation, Secondary amenorrhea OMIM:301033
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... ORPHA:69125
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Gemignani Syndrome
Abnormal testis morphology, Hypopigmented skin patches ORPHA:2074
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... OMIM:615703
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-lo... OMIM:615863
Trichohepatoenteric Syndrome 2
Villous atrophy, Brittle hair, Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea,... OMIM:614602
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Recurrent upper respira... ORPHA:436159
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis OMIM:617006
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Bilateral cryptorchidism, Abnormality of hair pigme... OMIM:618156
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... OMIM:618131
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Immunodeficiency 97 With Autoinflammation
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Hypertriglyceridemia, Rec... OMIM:619802
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Psoriasiform dermatitis, Decreased LDL cholesterol conce... OMIM:616834
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Feeding difficulties in infancy, Hypopig... ORPHA:177910
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Chronic diarrhea, Bronchi... OMIM:301220
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Sepsis, Tubulointerstitial nephri... ORPHA:37042
Bloom Syndrome
Recurrent herpes, Poor appetite, Severe varicella zoster infection, Paronychia, Uveitis, Gastroes... ORPHA:125
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Maculopapular exanthema,... ORPHA:540
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Malabsorpti... ORPHA:47
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natura... OMIM:616050
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ... ORPHA:911
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Immunodeficiency, Common Variable, 2
Impaired T cell function, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infe... OMIM:240500
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Phenylketonuria
Maternal hyperphenylalaninemia, Eczema, Blue irides, Hyperphenylalaninemia, Generalized hypopigme... OMIM:261600
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... ORPHA:2251
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Abdominal pain, Ocular albinis... OMIM:203300
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:277580
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Griscelli Syndrome
Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, Pyloric stenosis, Whi... ORPHA:381
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia ORPHA:88643
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Potocki-Lupski Syndrome
Oral-pharyngeal dysphagia, Feeding difficulties in infancy, High palate, Gastroesophageal reflux,... OMIM:610883
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... ORPHA:2137
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Abnormal eyebrow morphology, Decreased fertility, Generalized hypopigmentation, Irregular hyperpi... ORPHA:1816
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis OMIM:619164
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Alg12-Cdg
Sepsis, Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Hyponatremia, Recurrent ea... ORPHA:79324
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Recurrent viral infections, Acute otitis media, Recurrent candida in... ORPHA:572
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:897
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Hermansky-Pudlak Syndrome 3
Impaired platelet aggregation, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Vici Syndrome
Recurrent respiratory infections, Abnormality of retinal pigmentation, Feeding difficulties in in... ORPHA:1493
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, High palate, Fair hair, Hypopigmentation of the skin OMIM:269920
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Conjugated hyperbilirubinemia, Diarrhea, Steatorrhea, Acholic stools, Hypoc... OMIM:607765
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Recurrent infect... OMIM:613960
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Hypopigmentation of the skin, Elevated ... OMIM:615980
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresi... OMIM:243150
Griscelli Syndrome Type 2
Nausea and vomiting, Hypopigmentation of hair, Partial albinism, Hyperlipidemia, Premature grayin... ORPHA:79477
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent bac... OMIM:607594
Immunodeficiency 40
Rectal fistula, Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Interst... OMIM:616433
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Xeroderma Pigmentosum Variant
Keratitis, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the ... ORPHA:90342
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... ORPHA:79133
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Brittle hair, Sparse eyebrow, Feeding difficulties in infancy, Hydrocele testis, Hypocholesterolemia OMIM:618810
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Acne, Elevated circulating C-reactive protein concentration, Sterile arthritis, Arthritis, Coliti... OMIM:604416
Syndromic Diarrhea
Dependency on intravenous nutrition, Hypopigmentation of hair, Brittle hair, Villous atrophy, Hep... ORPHA:84064
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... OMIM:616000
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Recurrent skin infections, Sepsis, Depigmentation/hyperpigmentation of skin, Generalize... ORPHA:79396
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Idiopathic Localized Lipodystrophy
Inflammatory abnormality of the skin, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Cog4-Cdg
Neonatal sepsis, Fatal liver failure in infancy, Thick hair, Recurrent upper respiratory tract in... ORPHA:263501
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... OMIM:301074
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Feeding difficulties in infancy, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hyp... ORPHA:411515
Chylomicron Retention Disease
Hypertriglyceridemia, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, H... ORPHA:71
Classic Phenylketonuria
Nausea and vomiting, Hypopigmentation of hair, Eczema, Hyperphenylalaninemia, Hypopigmentation of... ORPHA:79254
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Hypocalcemic tetany, Opportunistic infection, Ch... ORPHA:83471
Bloom Syndrome
Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased fertility in females, Cryptor... OMIM:210900
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Primary amenorrhea, Hypocalcemia, Hypercholesterolemia, Hirsutism OMIM:612526
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Waardenburg Syndrome, Type 3
Partial albinism, Aganglionic megacolon, Synophrys, Blue irides, Hypopigmented skin patches, Prem... OMIM:148820
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Colitis, Bone marrow hypocellularity, ... OMIM:615190
Porphyria Cutanea Tarda
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... ORPHA:101330
Ataxia-Telangiectasia
Recurrent respiratory infections, Hypopigmentation of hair, Decreased circulating antibody level,... ORPHA:100
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Acholic stools, Hypoalbuminemia, Increased serum bile acid concent... OMIM:619868
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hypertriglyceridemia, Diarrhea, Esophageal varix, Hypercholesterolemia, Hepa... ORPHA:75234
Dubowitz Syndrome
Sparse scalp hair, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuff... OMIM:223370
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Hypoal... OMIM:619381
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Vici Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Elevated circulating creatine kinase ... OMIM:242840
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Large clumps of pigment irregularly distributed along hair s... ORPHA:167
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Pericarditis, F... OMIM:212065
Obesity And Hypopigmentation
Red hair OMIM:620195
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Hepatic failure, Hypopigmentation of the skin, Low posterior hairline ORPHA:261519
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo... ORPHA:894
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Alg3-Cdg
Abnormality of the gastrointestinal tract, Recurrent infections, Feeding difficulties, Macrogloss... ORPHA:79321
Menkes Disease
Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Sparse hair, Hypopigme... OMIM:309400
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, R... OMIM:618935
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow, Feeding difficulties ORPHA:261304
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Recurrent otitis media, Hypercholesterolemia, High palate, Feeding difficulties ORPHA:254531
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Severe infection, Recurre... ORPHA:2686
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,... ORPHA:1807
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diarrhea, Malnutrition,... ORPHA:96180
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Impaired T cell function, Chronic diarrhea, D... OMIM:614576
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... OMIM:308230
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Reduced natural killer cell activity, Recurrent pneumon... OMIM:608233
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Skin rash, Recurrent viral infections, Partial IgA deficiency, ... ORPHA:35078
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pancreatitis, Decreased LDL choles... OMIM:615947
Temple Syndrome
Hypertriglyceridemia, Cryptorchidism, Cleft palate, Feeding difficulties, Bifid uvula, High palat... OMIM:616222
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Shigellosis
Anorexia, Intestinal perforation, Sepsis, Abnormal blood ion concentration, Uveitis, Paralytic il... ORPHA:810
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... ORPHA:3243
Classic Mycosis Fungoides
Alopecia, Skin rash, Eczema, Hypopigmented skin patches, Irregular hyperpigmentation, Abnormality... ORPHA:2584
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Chronic constipation, Hyperammonemia, Increased C-peptide level OMIM:620211
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Protruding tongue, Poor suck, Feeding difficulties, Dysphagia, Hypopigm... ORPHA:98795
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Anterior uveitis, Colitis, Skin rash OMIM:616744
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Abnormal fingernail morp... ORPHA:678
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Hypopigmentation of the skin, Ocular albinism, Abnormal platelet aggre... OMIM:614171
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... ORPHA:69087
Porphyria Variegata
Hyponatremia, Abdominal pain, Abnormal circulating porphyrin concentration, Ileus, Constipation, ... ORPHA:79473
Kaufman Oculocerebrofacial Syndrome
Intestinal malrotation, Feeding difficulties in infancy, Sparse eyebrow, Recurrent infections, Hi... OMIM:244450
Congenital Disorder Of Glycosylation, Type Iio
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... OMIM:616828
Sepsis In Premature Infants
Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral infection,... ORPHA:90051
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Chronic mucocutaneous candi... ORPHA:3453
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Wiskott-Aldrich Syndrome
Recurrent herpes, Sepsis, Abnormal delayed hypersensitivity skin test, Inflammation of the large ... OMIM:301000
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Hypopigmentation of hair,... ORPHA:3440
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Increased circulating antibody level, ... ORPHA:86816
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Pyloric stenosis, Cleft palate, Feeding difficulties, High palate, Recurrent otit... ORPHA:96184
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... ORPHA:158681
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Thyroiditis, Hepatocellular carcinoma, Hyperlipidemia, Diarrhea, Irregular ... ORPHA:79259
Al-Raqad Syndrome
Chronic constipation, Hypopigmentation of the skin OMIM:616459
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Protruding tongue, Poor suck, Feeding difficulties, Dysphagia, Hypopigm... ORPHA:411511
Hermansky-Pudlak Syndrome 6
Albinism, Impaired ADP-induced platelet aggregation, Recurrent upper respiratory tract infections... OMIM:614075
Limited Cutaneous Systemic Sclerosis
Nausea and vomiting, Hypopigmented skin patches, Abnormality of skin pigmentation, Gastroesophage... ORPHA:220402
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Spotty hypopigmentation, A... ORPHA:1867
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Hyperhomocystinemia, High palate, Hypermethioninemia, Hypopigmentation of the skin,... OMIM:236200
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Hypopigme... ORPHA:330064
Autoimmune Polyendocrinopathy Type 2
Alopecia, Celiac disease, Hypopigmented skin patches, Hypogonadism, Hashimoto thyroiditis ORPHA:3143
Sim1-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Crypto... ORPHA:398079
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Low anterior hairline, Amenorrhea, Low posterior... ORPHA:528
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Blepharitis, Hyperpigmentation of the skin ORPHA:158029
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Lactose intolerance, Cryptorchidism, Hypopigmented skin patches, Protuberant abdomen,... ORPHA:457485
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Hypouricemia, Increased circulating guanosine conc... OMIM:613179
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Hypopigmented skin patches ORPHA:3239
Lichen Planopilaris
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hepatitis, Onycholysis, Abn... ORPHA:525
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Recurrent infections, Abnormality of skin pigmentation, Decreased cir... OMIM:620040
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Chronic diarrhea, D... ORPHA:14
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Poor appetite, Chronic diarrhea, Fine hair... ORPHA:2221
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Menometrorrhagia, Partial albinism, Anorex... ORPHA:79430
Mandibuloacral Dysplasia
Alopecia, Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morp... ORPHA:2457
Galactokinase Deficiency
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Feeding difficulties, Increased ... ORPHA:79237
Dyskeratosis Congenita, Autosomal Recessive 8
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone ma... OMIM:620133
Angelman Syndrome
Abnormality of the gastrointestinal tract, Protruding tongue, Gastrostomy tube feeding in infancy... ORPHA:72
Trichohepatoenteric Syndrome 1
Curly hair, Villous atrophy, Brittle hair, Woolly hair, Hepatic failure, Fine hair, Decreased cir... OMIM:222470
Prader-Willi Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Feedin... OMIM:176270
Morgagni-Stewart-Morel Syndrome
Acne, Osteoarthritis, Hyperuricemia, Hypercholesterolemia, Hirsutism ORPHA:77296
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Xerostomia, Primary a... ORPHA:398069
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Lymphadenitis, Chroni... OMIM:615895
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Protruding tongue, Poor suck, Feeding difficulties, Constipation, Dysph... ORPHA:98794
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Diarrhea,... ORPHA:79240
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Rothmund-Thomson Syndrome
Calcinosis, Sparse eyelashes, Alopecia totalis, Skin rash, Sparse eyebrow, Nasogastric tube feedi... ORPHA:2909
Slc35A2-Cdg
Increased circulating thyroglobulin level, Feeding difficulties, Gastroesophageal reflux, Hypopig... ORPHA:356961
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Premature ova... ORPHA:3261
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Prader-Willi Syndrome
Recurrent respiratory infections, Hypopigmentation of hair, Gastroparesis, Cryptorchidism, Nasoga... ORPHA:739
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Aganglionic megacolon, Cryptorchidism, Blue irides, Hypopigmented... OMIM:613266
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... ORPHA:247598
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent herpes, Villous atrophy, Inflammatory abnormality of ... ORPHA:391487
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumonia, BCGosis, Ch... OMIM:619652
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hypertriglyceridemia, Villous atrophy, Necrotizing enterocolitis, Elevated ci... OMIM:619573
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Bloody dia... OMIM:617718
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Attenuated Chédiak-Higashi Syndrome
Recurrent respiratory infections, Ocular albinism, Generalized hypopigmentation ORPHA:352723
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... ORPHA:324964
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Diarrhea,... ORPHA:264580
Angelman Syndrome
Protruding tongue, Feeding difficulties in infancy, Blue irides, Macroglossia, Constipation, Fair... OMIM:105830
Dowling-Degos Disease
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... ORPHA:79145
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Gastro... ORPHA:98754
Localized Epidermolysis Bullosa Simplex
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Rothmund-Thomson Syndrome Type 1
Calcinosis, Premature ovarian insufficiency, Alopecia totalis, Cryptorchidism, Diarrhea, Function... ORPHA:221008
Lichen Planus Pemphigoides
Hypopigmented streaks, Conjunctivitis, Abnormality of the nail, Blepharitis ORPHA:254478
Smith-Magenis Syndrome
Hypertriglyceridemia, Synophrys, Velopharyngeal insufficiency, Constipation, Hypercholesterolemia OMIM:182290
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Gastro... ORPHA:98793
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Immunodeficiency 47
Decreased circulating copper concentration, Chronic diarrhea, Decreased circulating antibody leve... OMIM:300972
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Gastro... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Gastro... ORPHA:177901
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... ORPHA:555905
Glycogen Storage Disease Ib
Hyperlipidemia, Gout, Xanthelasma, Recurrent bacterial infections, Inflammation of the large inte... OMIM:232220
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting, Hypopigmentat... ORPHA:454831
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Gastroesophageal reflux, Decreased liver function, Dysphagia, Gastrosto... ORPHA:70472
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... ORPHA:542323
Dyskeratosis Congenita
White hair, Anorectal anomaly, Premature graying of hair, Periodontitis, Sparse hair, Alopecia, A... ORPHA:1775
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Recurrent viral infections, Atopic dermatitis, Membranous nephro... OMIM:618999
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... ORPHA:67
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, El... ORPHA:90038
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Menorrha... OMIM:614077
Hartnup Disease
Glossitis, Skin rash, Malabsorption, Hypopigmented skin patches, Irregular hyperpigmentation, Inf... ORPHA:2116
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Abnormal circulating porphyrin concentration, Scarring alope... ORPHA:95159
Pontocerebellar Hypoplasia, Type 7
Cryptorchidism, Synophrys, Feeding difficulties, High palate, Hypopigmentation of the skin, Hirsu... OMIM:614969
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, High, narrow palate, Hypopigmented skin patches, Multiple cafe-au-lait ... ORPHA:3214
Thymoma
Myositis, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lymphocyte physiology, ... ORPHA:99867
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Decreased lymphocyte proliferation in response to anti-CD3, Pneumonia, Re... OMIM:600802
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abdominal pain, Minimal change glomerulonephritis, Peritonitis, Hypoalbumin... ORPHA:567548
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hyperammonemia, Ga... OMIM:201475
Tangier Disease
Abdominal pain, Hypertriglyceridemia, Nail dystrophy, Hypocholesterolemia ORPHA:31150
Hyperlipoproteinemia, Type I
Pancreatitis, Hyperlipidemia, Episodic abdominal pain, Lactescent serum, Vomiting, Increased circ... OMIM:238600
Laron Syndrome
Hypercholesterolemia, Osteoarthritis ORPHA:633
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diarrhea, E... OMIM:278000
Prader-Willi Syndrome Due To Translocation
Recurrent respiratory infections, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Feedin... ORPHA:177907
Muenke Syndrome
High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Pr... OMIM:619488
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Rothmund-Thomson Syndrome Type 2
Calcinosis, Alopecia totalis, Cryptorchidism, Diarrhea, Cleft palate, Functional abnormality of t... ORPHA:221016
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Increased fecal coproporphyrin 1, Conjunctivitis, El... OMIM:263700
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... OMIM:207750
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Schimmelpenning-Feuerstein-Mims Syndrome
Hypophosphatemic rickets, Alopecia, Hypopigmentation of the skin OMIM:163200
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... ORPHA:562639
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Abnormal circula... ORPHA:470
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Alopecia OMIM:300337
Reactive Arthritis
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhe... ORPHA:29207
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Hypopigmentation of the skin, Increased stool urobilinogen c... ORPHA:79277
Intellectual Disability And Myopathy Syndrome
Atopic dermatitis, Cafe-au-lait spot, Spotty hypopigmentation OMIM:619719
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Eczema, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotili... OMIM:270400
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Nephrotic Syndrome, Type 11
Minimal change glomerulonephritis, Cleft palate, High palate, Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Multiple c... ORPHA:302
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Thick hair, Highly arched eyebrow ORPHA:401923
Primary Sclerosing Cholangitis
Acute hepatic failure, Recurrent systemic pyogenic infections, Cholangiocarcinoma, Abnormal large... ORPHA:171
Crouzon Syndrome
Conjunctivitis, Hypopigmented skin patches, Narrow palate, Melanocytic nevus ORPHA:207
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Abnormality of skin pigmentation, Inf... ORPHA:2908
Localized Scleroderma
Abnormal skin adnexa morphology, Fasciitis, Hypopigmented skin patches, Uveitis, Arthritis, Patch... ORPHA:90289
Smith-Magenis Syndrome
Hypertriglyceridemia, Feeding difficulties in infancy, Synophrys, Cleft palate, Gastroesophageal ... ORPHA:819
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Freckling, Conjunctivitis, Hypopigmentation of the skin OMIM:278720
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abdominal pain, Ile... ORPHA:163746
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ... OMIM:300860
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Cryptorchidism, Fair hair, Blue irides OMIM:614613
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Intestinal bleeding, Gastroesophageal reflux,... ORPHA:90291
Glycogen Storage Disease Ic
Stomatitis, Chronic pancreatitis, Hyperlipidemia, Recurrent upper respiratory tract infections, G... OMIM:232240
Mucolipidosis Ii Alpha/Beta
Brittle hair, Increased serum beta-hexosaminidase, Sparse eyebrow, Recurrent pneumonia, Macroglos... OMIM:252500
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction... ORPHA:183
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, White hair, Fine hair, Ag... ORPHA:935
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Esophageal v... OMIM:619662
Mismatch Repair Cancer Syndrome 1
Axillary freckling, Adenomatous colonic polyposis, Adenocarcinoma of the small intestine, Adenoca... OMIM:276300
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Mosaic Trisomy 8
Cryptorchidism, Hypopigmented skin patches, Cleft palate, High palate, Hypopigmentation of the sk... ORPHA:96061
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Xerostomia, Sparse hair, Hypogonadotropic hypogonadism, Sparse eyebrow, ... OMIM:129900
Wiskott-Aldrich Syndrome
Recurrent respiratory infections, Sinusitis, Eczema, Abnormality of the menstrual cycle, Keratiti... ORPHA:906
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... OMIM:193500
Gapo Syndrome
Alopecia, Sparse eyelashes, Dysmenorrhea, Sparse eyebrow, Early balding, Hypopigmented skin patch... ORPHA:2067
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Oculocerebral Hypopigmentation Syndrome, Preus Type
White hair, Ocular albinism, High palate, Generalized hypopigmentation, Iris hypopigmentation ORPHA:2720
Galloway-Mowat Syndrome 7
Eczema, Minimal change glomerulonephritis, Cleft palate, High palate, Hypercholesterolemia OMIM:618348
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Aplasia/Hypoplasia of t... ORPHA:238468
Galloway-Mowat Syndrome 1
Hiatus hernia, Feeding difficulties, High palate, Hypoalbuminemia, Small nail, Hypopigmentation o... OMIM:251300
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the skin, Abdominal pain, Diarr... ORPHA:79456
Sitosterolemia 1
Hyperapobetalipoproteinemia, Abdominal pain, Elevated circulating sitosterol concentration, Xanth... OMIM:210250
Incontinentia Pigmenti
Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Skin rash, Supernumerary nipple... ORPHA:464
Cystinosis, Nephropathic
Hyponatremia, Male infertility, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigm... OMIM:219800
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Bone... ORPHA:3322
Chromomycosis
Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca, Hypopigmented skin patches ORPHA:182
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair, Decreased circulating cortisol level, Hyperbilirubinemia OMIM:609734
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Sepsis, Gastrointestinal... ORPHA:95455
Neuhauser Syndrome
Low anterior hairline, High palate, Dysphagia, Hypercholesterolemia, Bifid uvula OMIM:249310
Low Phospholipid-Associated Cholelithiasis
Abdominal colic, Cholangitis, Sclerosing cholangitis, Neoplasm of the liver, Cholecystitis, Hepat... ORPHA:69663
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Synophrys, Hypogonadotropic hypogonadism, Hypopigmented skin patches, Aplastic/hypoplastic toenail ORPHA:1295
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Nail dystrophy, Small nail, Hypercholesterolemia, Decreased testicular size OMIM:610644
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches, Cleft palate, High palate, Anonychia, Aplasia/Hypop... ORPHA:1784
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Gout, Increase... ORPHA:412
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Sparse scalp hair, Alopecia, Hyperlipidemia, High palate, Hypercholesterolemia, Mottl... OMIM:248370
Curry-Jones Syndrome
Intestinal malrotation, Hypopigmented skin patches, Generalized hirsutism ORPHA:1553
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Recurrent urinary tract infections, Fair hair, Alopecia, Eczema... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Fair hair, Alopecia, Eczema... ORPHA:363958
Oculocerebrorenal Syndrome Of Lowe
Hypoammonemia, Feeding difficulties in infancy, Periodontitis, Gastroesophageal reflux, Chronic o... ORPHA:534
Infantile Krabbe Disease
Nasogastric tube feeding in infancy, Hypopigmented skin patches, Recurrent infections, Feeding di... ORPHA:206436
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Anal stenosis, Sparse eyelashes, Hypogonadotropic hypogonadism, Sparse axillar... OMIM:604292
Lmna-Related Cardiocutaneous Progeria Syndrome
Absent eyebrow, Hypertriglyceridemia, Absent eyelashes, Premature graying of hair, Sparse hair, H... ORPHA:363618
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Broad eyebrow, Osteomyelitis, Recurrent ear infections, Abdominal pain, High, narrow palate, Syno... OMIM:619475
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Lumbar hypertrichosis, R... ORPHA:163956
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Synophrys, Cleft palate, Chronic constipation, Cholecystitis, Recurrent otitis media, Hypopigment... OMIM:301066
Plague
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... ORPHA:707
Ruvalcaba Syndrome
Cryptorchidism, Hypopigmented skin patches, Generalized hirsutism ORPHA:3121
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... ORPHA:90068
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hepatitis ORPHA:209902
Intellectual Developmental Disorder, Autosomal Recessive 78
High palate, Hypopigmentation of the skin OMIM:620237
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... ORPHA:3260
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:99413
Turner Syndrome
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:881
Mosaic Monosomy X
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:99228
Monosomy X
Hypoplastic toenails, High, narrow palate, Gastrointestinal inflammation, Hyperconvex fingernails... ORPHA:99226
Oculocerebrocutaneous Syndrome
Cryptorchidism, Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:1647
Eec Syndrome
Slow-growing hair, Sparse eyebrow, Keratitis, Xerostomia, Nail pits, Fine hair, Cleft palate, Inf... ORPHA:1896
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Aganglionic megacolon, Short-segment aganglionic megacolon, Crypt... OMIM:609136
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Menorrhagia ORPHA:331
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Anorexia, Melanocytic nevus, Multiple cafe-au-lait spots, Ge... ORPHA:1969
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Vomiting, Nausea ORPHA:90065
Short Stature With Microcephaly And Distinctive Facies
Sparse scalp hair, Sparse eyebrow, Spotty hypopigmentation, Recurrent infections, Spotty hyperpig... OMIM:615789
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Hypopigmented skin patches, Fine hair, Multiple cafe-au-lait sp... ORPHA:2637
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Generalized hypopigmentation, Iris transillumination defect OMIM:617306
Harrod Syndrome
Cryptorchidism, High palate, Hypopigmented skin patches ORPHA:2115
Lysosomal Acid Lipase Deficiency
Hyponatremia, Nausea and vomiting, Fatal liver failure in infancy, Hypertriglyceridemia, Abdomina... ORPHA:275761
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Feeding difficulties in infancy, Cryptorch... ORPHA:96169
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Intestinal malrotation, Supernumerary nipple... OMIM:305600
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Hypermelanotic macule, Pneumonia, Hypopigmented skin patches on... OMIM:607944
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Low anterior hairline, Hirsuti... OMIM:617137
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... OMIM:619708
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Cleft soft palate, Intestinal malrotation, Hypoplasia of the ovary, Azotemia, Generaliz... OMIM:619321
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, High palate ORPHA:2479
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Hypercholester... OMIM:151660
Isolated Thyroid-Stimulating Hormone Deficiency
Feeding difficulties in infancy, Macroglossia, Constipation, Macroorchidism, Hypercholesterolemia... ORPHA:90674
Fanconi Anemia
Meckel diverticulum, Recurrent urinary tract infections, Aganglionic megacolon, Aplasia/Hypoplasi... ORPHA:84
Fumarase Deficiency
Necrotizing enterocolitis, Hepatic failure, High palate, Hyperbilirubinemia OMIM:606812
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Eczema, Pustule, Xerostomia, Hypopigmented skin patche... ORPHA:2907
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hypopigmented skin pa... ORPHA:2896
Pemphigus Erythematosus
Malar rash, Hypopigmented skin patches ORPHA:79480
Xeroderma Pigmentosum
Alopecia, Hypermelanotic macule, Keratitis, Cryptorchidism, Hypopigmented skin patches, Melanocyt... ORPHA:910
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Hypercholesterolemia, Male hypogonadism, Pancreatitis OMIM:619471
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, In... OMIM:181000
Atypical Werner Syndrome
Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Hypertriglyceridemia, Prem... ORPHA:79474
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Anorectal anomaly, Hypopigmented skin pat... ORPHA:233
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches ORPHA:2715
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Gout, Hyperproteinemia, Increased circulating renin level, Hy... ORPHA:90041
Sarcoidosis
Abnormality of the gastrointestinal tract, Alopecia, Maculopapular exanthema, Hypercalcemia, Paro... ORPHA:797
Menkes Disease
Nausea and vomiting, Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Malabs... ORPHA:565
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Acne, Impaired T cell function, Aganglionic megacolon, Intestinal ma... ORPHA:567
Mosaic Trisomy 20
Cryptorchidism, Cleft palate, Depigmentation/hyperpigmentation of skin, Chronic constipation, Hyp... ORPHA:1724
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash morphology, Cryptorchidism, Pyl... ORPHA:818
Steinert Myotonic Dystrophy
Alopecia, Hypergonadotropic hypogonadism, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagi... ORPHA:273
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Cleft palate ORPHA:90354
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Increased HDL cholesterol concentration, Elev... ORPHA:70591
Lipodystrophy, Familial Partial, Type 7
Sparse scalp hair, Hypertriglyceridemia, Diarrhea, Feeding difficulties, Pigmentary retinopathy, ... OMIM:606721
Mend Syndrome
Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Spotty hypopigmentation... ORPHA:401973
Kindler Syndrome
Ridged nail, Anal stenosis, Esophageal stenosis, Spotty hypopigmentation, Periodontitis, Dysphagi... OMIM:173650
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Crypt... ORPHA:636
Mowat-Wilson Syndrome
Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Cryptorchidism, Decreased... ORPHA:2152
Sotos Syndrome
Aganglionic megacolon, Hypercalcemia, Sparse anterior scalp hair, Cryptorchidism, Decreased ferti... ORPHA:821
Oculocerebral Hypopigmentation Syndrome, Cross Type
Cryptorchidism, Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation ORPHA:2719
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Fee... ORPHA:2556
Tetragametic Chimerism
Cryptorchidism, Abnormal testis morphology, Hypopigmented skin patches ORPHA:199310
Familial Tumoral Calcinosis
Skin rash, Hypopigmented skin patches ORPHA:53715
Cowden Syndrome
Hypopigmented skin patches, Melanocytic nevus, Hamartomatous polyposis, Furrowed tongue, Macroglo... ORPHA:201
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair, High palate ORPHA:1974
Alagille Syndrome 1
Hypertriglyceridemia, Pigmentary retinopathy, Hepatocellular carcinoma, Hypercholesterolemia, Hep... OMIM:118450
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h... OMIM:210720
Pallister-Killian Syndrome
Hyperpigmented streaks, Anteriorly placed anus, Hypopigmented streaks, Sparse hair, Hypopigmentat... OMIM:601803
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Cryptorchidism, Synophrys, Patchy hypo- and hyperpigmentation, Cleft palate, High... ORPHA:3063
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Cr... OMIM:309000
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent respiratory infections, Conjugated hyperbilirubinemia, Increased circulating ferritin c... OMIM:619534
Mend Syndrome
Cryptorchidism, High palate, Spotty hypopigmentation OMIM:300960
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
OMIM:618392

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mbtps1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mbtps1.

No publications found that use IMPC mice or data for Mbtps1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mbtps1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mbtps1tm3e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Mbtps1tm3a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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